E27Q (p.Glu27Gln) variant of PMS1 (PMS1 protein homolog 1)
E27Q (p.Glu27Gln) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyp of colon; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- rs5742973
- ClinGen CA2026282
- ClinVar RCV000735969
- ClinVar RCV004692215
- Uncertain significance
- Polyp of colon; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.82
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Polyp of colon; not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs5742973)
- UniProt: Uncertain significance (in dbSNP:rs5742973)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0786
- Literature evidence available